|Institutional Source||Beutler Lab|
|Gene Name||fibrinogen alpha chain|
|Is this an essential gene?||Possibly non essential (E-score: 0.341)|
|Stock #||R2420 (G1)|
|Chromosomal Location||83026076-83033627 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 83033154 bp|
|Amino Acid Change||Asparagine to Isoleucine at position 705 (N705I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000133117 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029630] [ENSMUST00000166581]|
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: N705I
PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: N705I
|Coding Region Coverage||
FUNCTION: This gene encodes a subunit of the coagulation factor fibrinogen, which is a component of the blood clot. The encoded protein is proteolytically processed by thrombin during the conversion of fibrinogen to fibrin. Mice lacking the encoded protein display bleeding in the peritoneal cavity, skin and soft tissues around joints immediately after birth, and are predisposed to spontaneous fatal abdominal hemorrhage as they grow. Pregnant mice lacking the encoded protein succumb to uterine bleeding during gestation. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for disruptions of this gene have blood that is unable to clot. On some genetic backgrounds this can lead to fatal hemorrhaging. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fga||
(F):5'- CTGGCTAGGCAATGACTACCTC -3'
(R):5'- CCCGTTCTCTATCTCATAGGGG -3'
(F):5'- CTCAGTTCTCAGGGTTGAATTAGAG -3'
(R):5'- CTATCTCATAGGGGCTGTTGTTCC -3'